*Current HUGO Members are listed by last name, in alphabetic order.

Charles Lee, USA 

President (2017-Current)

Dr. Lee is responsible for the scientific direction and coordination of The Jackson Laboratory (JAX) for Genomic Medicine.
Dr. Lee joined JAX Genomic Medicine from Harvard Medical School and Brigham and Women's Hospital. He is best known for his discovery that copy--number variation—a state in which cells have an abnormal number of DNA sections, sometimes associated with susceptibility or resistance to disease—is widespread and significant in the human genome. This discovery, and his subsequent research, has provided tools that clinicians use to help them make accurate diagnoses for hundreds of thousands of genetic tests every year on conditions such as autism, birth defects and cancer.
Throughout his career, Dr. Lee has received numerous accolades and awards for his research into the human genome, including an Award from the American Association for Cancer Research and the 2008 Ho-Am Prize in Medicine. He is an elected fellow of the American Association for the Advancement of Science (AAAS), a 2014 Thompson Reuters Citation Laureate and is currently president of the Human Genome Organization (HUGO). In addition to his responsibilities at JAX Genomic Medicine, Dr. Lee is an adjunct professor at Xi’An Jiaotong University, Xi’An, China.

Stylianos E. Antonarakis

President Emeritus

Stylianos E. Antonarakis is currently Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and the founding director of iGE3 (institute of Genetics and Genomics of Geneva). He is a medical, molecular, human geneticist, physician-scientist, who studied extensively the relationship between genomic and phenotypic variation. He received his MD (1975) and DSc (1982) from the University of Athens Medical School, and after a specialization in Pediatrics in the University Hospital, Athens Greece, he moved to Baltimore, Maryland to the program of Medical Genetics at the Johns Hopkins University School of Medicine with Haig H. Kazazian and Victor McKusick (1980-1983). He joined the faculty of the Johns Hopkins University in 1983 and rose to full professor of Pediatric Genetics, Biology and Medicine in 1990. In 1992 he moved to Geneva, Switzerland to chair Genetic Medicine in the University of Geneva. His research work includes the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21. His laboratory participated in the human genome sequence and functional analysis, particularly on chromosome 21. He is an international expert on disorders of chromosome 21, cloning of genes for genetic disorders, development of diagnostic tests, genome structure and function, studies of the genome variability, and conserved non-coding sequences in human DNA. He has published extensively (more than 620 well-cited papers) in the scientific literature, and is co-editor of the current edition of the classic textbook “Genetics in Medicine”; he is listed as one of the highly cited scientists by the ISI institute (more than 40,000 citations; h-index 99). He was the President of the European Society of Human Genetics (2001-2002), member of the HUGO Council and President Elect of HUGO for 2013-2016, foreign member of the Academy of Athens (2003), member of EMBO (2006). He was the co-organizer of the European School of Genetic Medicine, and in the last 28 years taught in the Bar Harbor Genetics Course, Maine. He was awarded the Society of Pediatric Research Young Investigator Award (1984), International Jerome Lejeune Prize (2004), the European Society of Human Genetics Award (2005), and was elected to the Society of Scholars of the Johns Hopkins University (2006), and the American Academy of Physicians (2010). He was awarded the Commander of the Order of Phoenix medal from the Hellenic Democracy (2007). More than 70 talented young scientists were trained in his laboratory (graduate students and postdoctoral fellows); in addition more than 25 young physicians were trained in the Medical Genetics Clinic of his department. With Haig Kazazian he has established one of the first molecular diagnostic laboratories in USA as early as 1982. He is a member of the Swiss National Science Foundation Research Council, and the Chair of the Genetics Review Panel of the EU ERC. His research laboratory was/is supported by grants from the National Institutes of Health, the European Union (including the European Research Council), and the Swiss National Science Foundation and numerous other Foundations including the Gebert and Lejeune Foundations. His is the originator of the World Down Syndrome Day. His current interests and research projects are the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.

Karen B. Avraham, Israel (HGM2021 Chair of Local Organizing Committee) 

Prof. Karen B. Avraham is Vice Dean at the Sackler Faculty of Medicine and Professor of Human Genetics in the Department of Human Molecular Genetics and Biochemistry at Tel Aviv University. Born in Canada and raised in the U.S., Dr. Avraham received her B.A. degree in Biology from Washington University in St. Louis, Missouri, U.S., went on to perform her Ph.D. at the Weizmann Institute of Science in Rehovot, Israel and completed her post-doctoral training at the National Cancer Institute in Frederick, MD, U.S. At Tel Aviv University, Prof. Avraham’s research has centered on the discovery of disease genes, focusing on hereditary hearing loss. Her team takes a comprehensive approach to study the molecular basis of hearing loss, using genetic, developmental, biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that are relevant for the hearing-impaired population. Her group has demonstrated that microRNAs are essential for development and function of inner ear hair cells in vertebrates through microRNA expression, mouse mutants and target identification. Prof. Avraham’s work has led to 83 peer-reviewed manuscripts and 43 reviews and book chapters. She was awarded the Sir Bernard Katz Prize from the Alexander-von Humboldt Foundation in Germany, the Bruno Memorial Prize from the Rothschild Foundation in Israel and in 2011, the Teva Prize for Groundbreaking Research in the Field of Rare Diseases from Teva Pharmaceuticals Industries in Israel.

Piero Carninci, Japan (2020 - 2021 / HUGO US Board Member) 

Born and educated in Italy he obtained his doctoral degree at the University of Trieste in 1989. From 1990 to 1995 he developed technologies for DNA extraction and DNA sequencing at Talent, a spin-off biotech.

He moved to Japan in 1995 at RIKEN as STA Fellow and became a tenured researcher in 1997. He developed technologies to capture full-length cDNAs based on cap-trapper, which became the fundamental technology for the FANTOMprojects.  Further, technologies to analyze the transcriptome, he has developed also the CAGE method, allowing simultaneous measurement of gene expression and map of promoters and other regulatory regions. These technologies have been broadly used in the RIKEN FANTOM projects and allowed identifying non-coding RNAs as are the major output of the mammalian genome and providing comprehensive maps of the mammalian promoters and enhancers. The CAGE methods was further redeveloped for analysis of limited amount of tissues and single cells.

He was appointed in 2008 to Team Leader, Unit Leader and Deputy Project Director positions at the RIKEN Omics Science Center. From 2013, he was appointed as Director of the Division Genomics Technologies and a Deputy Director of the RIKEN Center for Life Science Technologies. From April 2018, he was appointed as Deputy Director of the RIKEN Center for Integrative Medical Sciences. From July 2020 he has taken the position of Head of the Genomics Research Centre of the Functional Genomics Programme at the Human Technopole in Milan, Italy.  

Currently, he is focusing on investigating the functions of lncRNAs in the FANTOM6 project and Human Cell Atlas (HCA). Also, he has been exploring the mechanisms of SINEUPs, antisense lncRNAs which upregulate targeted protein translation.

He has published more than 370 papers and book chapters, edited books and is a member of editorial boards of various scientific journals.

Ada Hamosh, USA (2020 - 2021 / HUGO US Board Member)

After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Institute of Genetic Medicine (IGM)of the Johns Hopkins University in 1992. She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but expanding to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice. In addition, over the past several years, she has developed PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic information, as well as variant filtering and analysis developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies. Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease.

Edison Liu, USA 

President Emeritus

Edison Liu, M.D., is the president and CEO of The Jackson Laboratory, an independent research institute focused on complex genetics and functional genomics with campuses in Maine, Connecticut, and California. Previously, he was the founding executive director of the Genome Institute of Singapore and the president of the Human Genome Organization (HUGO). He was also the scientific director of the National Cancer Institute's Division of Clinical Sciences in Bethesda, Md., where he was in charge of the intramural clinical translational science programs. In his earlier career, Dr. Liu was a faculty member at the University of North Carolina at Chapel Hill, where he was the director of the UNC Lineberger Comprehensive Cancer Center's Specialized Program of Research Excellence in Breast Cancer; the director of the Laboratory of Molecular Epidemiology at UNC's School of Public Health; and the Chief of Medical Genetics. Dr. Liu is an international expert in cancer biology, systems genomics, human genetics, molecular epidemiology and translational medicine. Dr. Liu's own scientific research has focused on the functional genomics of human cancers, particularly breast cancer, uncovering new oncogenes, and deciphering on a genomic scale the dynamics of gene regulation that modulate cancer biology. He has authored over 320 scientific papers and reviews and co-authored two books. He obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University.  He then received his residency and fellowship training at Washington University, St, Louis, and Stanford, and post-doctoral training in molecular oncology at the University of California at San Francisco.

Michael Snyder, USA (2020 - 2021 / HUGO US Board Member

Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University. He is a leader in the field of functional genomics and proteomics, and one of the major participants of the ENCODE project. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, de novo genome sequencing of genomes using high throughput technologies and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal findings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs both between and within species. He has also combined different state-of–the-art “omics” technologies to perform the first longitudinal detailed integrative personal omics profile (iPOP) of person and used this to assess disease risk and monitor disease states for personalized medicine. He is a cofounder of several biotechnology companies, including Personalis, Qbio, January AI, Mirvie, Protos, Filtricine.

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